How is Gorham’s disease diagnosed?
In 1983 Heffez and colleagues10 published a case report in which they suggested eight criteria for a definitive diagnosis of Gorham’s disease:
- Positive biopsy with the presence of angiomatous tissue
- Absence of cellular atypia
- Minimal or no osteoblastic response or dystrophic calcifications
- Evidence of local bone progressive osseous resorption
- Non-expansile, non-ulcerative lesions
- No involvement of viscera
- Osteolytic radiographic pattern
- Negative hereditary, metabolic, neoplastic, immunologic, or infectious etiology.
In the early stages of the disease x-rays reveal changes resembling patchy osteoporosis. As the disease progresses bone deformity occurs with further loss of bone mass and, in the tubular bones (the long bones of the arms and legs), a concentric shrinkage is often seen which has been described as having a “sucked candy” appearance. Once the cortex (the outer shell) of the bone has been disrupted, vascular channels may invade adjacent soft tissues and joints. Eventually, complete or near-complete resorption of the bone occurs and may extend to adjacent bones, though spontaneous arrest of bone loss has been reported on occasion. Throughout this process, as the bone is destroyed it is replaced by angiomatous and/or fibrous tissue.1, 2, 9, 11, 12
Often Gorham’s disease is not recognized until a fracture occurs, with subsequent improper bone healing. The diagnosis essentially is one of exclusion and must be based on combined clinical, radiological and histopathological findings.9
X-rays, CT, MRI, ultrasound, and nuclear medicine (bone scans) are all important tools in the diagnostic workup and surgical planning, but none have the ability alone to produce a definitive diagnosis. Surgical biopsy with histological identification of the vascular or lymphatic proliferation within a generous section of the affected bone is an essential component in the diagnostic process.9, 14, 15
Recognition of the disease requires a high index of suspicion and an extensive workup. Because of its serious morbidity, Gorham’s must always be considered in the differential diagnosis of osteolytic lesions.